StAR è un gene codificato dal simbolo STAR. È noto anche come Steroidogenic acute regulatory protein, mitochondrialT domain-containing protein 1D1D1. StAR ha una massa di 31.91kDa, una lunghezza di amminoacidi di 285, ed è implicato in Adrenal hyperplasia 1.
Offriamo 16 anticorpi contro StAR, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone.
Sommario di Entrez
The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13.
Specificità del tessuto
Expressed in gonads, adrenal cortex and kidney.
Coinvolgimento nella malattia
Adrenal hyperplasia 1: The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted.
Posizione cellulare
Mitochondrion.
